Hs05576268_cn

• Gene Symbol: CCDC157
• Assay Reference Genome Location: Chr.22:30356633 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 550631
• Gene Name: coiled-coil domain containing 157
• Gene Aliases: -
• Location: Chr.22:30356635-30378655 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC157	NM_001017437.3			NP_001017437.2
	NM_001318334.1			NP_001305263.1
	NM_001318335.1			NP_001305264.1
	DA647196.1

Target Gene Details

• Entrez Gene ID: 10291
• Gene Name: splicing factor 3a subunit 1
• Gene Aliases: PRP21, PRPF21, SAP114, SF3A120
• Location: Chr.22:30331988-30356947 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SF3A1	NM_005877.5			NP_005868.1
	AK303273.1
	AU100212.1
	BC001976.1			AAH01976.1
	BC007684.2			AAH07684.1
	BI827130.1
	CR456575.1			CAG30461.1
	DB445415.1
	X85237.1			CAA59494.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1066179	Chr.22:30328159 - 30370477 on Build GRCh38	Gain	CCDC157 KIAA1656 SF3A1
nsv829171	Chr.22:30202041 - 30647591 on Build GRCh38	Loss	TBC1D10A CCDC157 OSM HORMAD2 SEC14L2 GATSL3 SDC4P SEC14L6 TCN2 SLC35E4 MGC20647 SEC14L3 RNF215 KIAA1656 LIF GAL3ST1 SF3A1 MTFP1 PES1 SEC14L4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

regulation of alternative mRNA splicing, via spliceosome
mRNA 3'-splice site recognition
mRNA splicing, via spliceosome
mRNA processing

Function(s)

RNA binding
protein binding
poly(A) RNA binding